Xeroderma Pigmentosum

What is Xeroderma Pigmentosum?

Xeroderma pigmentosum (pronounced: zer-o-der-ma/pig-men-toe-sum) is a very rare skin disorder where a person is highly sensitive to sunlight (photosensitive), has premature skin aging and is prone to developing skin cancers.

People with xeroderma pigmentosum have a defect in the gene that is responsible for repairing cell damage caused by UV light. This defect leads to cancerous cells or cell death.

Xeroderma pigmentosum is characterized by multiple pigmented spots and larger atrophic lesions, and a glossy white thinning of the skin. The pigmented spots look like freckles.

Many patients with xeroderma pigmentosum die at an early age from skin cancers. However, if a person is diagnosed early, does not have severe neurological symptoms or has a mild variant, and takes all the precautionary measures to avoid exposure to UV light, they may survive beyond middle age.

Xeroderma pigmentosum is an inherited childhood disease. It is also referred to as XP.

Xeroderma pigmentosum is caused by a defect in one of the genes. It is an autosomally recessive inherited disease. In order to inherit xeroderma pigmentosum, the person has to inherited one recessive xeroderma pigmentosum gene from each parent.

Who is at risk of Xeroderma Pigmentosum?

Couples who are each carriers of the xeroderma pigmentosum trait are at greater risk of producing a child with xeroderma pigmentosum.

What are the signs and symptoms of xeroderma pigmentosum?

Some of the most common symptoms are:

• An unusually severe sunburn after a short sun exposure. The sunburn may last for several weeks. The sunburn usually occurs during a child’s first sun exposure.
• development of many freckles at an early age.
• Irregular dark spots.
• Thin skin.
• Excessive dryness.
• Rough-surfaced growths (solar keratoses), and skin cancers.
• Eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot, and clouded.
• Blistering or freckling on minimum sun exposure.
• Premature aging of skin, lips, eyes, mouth and tongue

How is Xeroderma Pigmentosum diagnosed?

Usually xeroderma pigmentosum is detected between the ages of 1 and 2 years old. Your doctor will take blood and urine samples and measure the DNA repair factor.

Unfortunately, there is no cure for xeroderma pigmentosum. The main goal of treatment is to protect the patient from UV exposure and thus prevent the damaging effects it can have on the skin.

Can a person with Xeroderma Pigmentosum have children?

Yes. Most people with xeroderma pigmentosum have normal sexual development and functioning, and they are able to have children. The probability of a person with xeroderma pigmentosum having a child with xeroderma pigmentosum is very small.

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